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2 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial infantile bilateral striatal necrosis
Pilomatrixoma

ADAR CTNNB1
MT-ATP6
NUP62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NUP62
(0.63)
CTNNB1



Citations in the biomedical literature:


Familial infantile bilateral striatal necrosis
ADAR MT-ATP6 NUP62
Pilomatrixoma
CTNNB1



Familial infantile bilateral striatal necrosis
Pilomatrixoma

Synonym(s):
- Familial IBSN
- Familial infantile striatonigral degeneration
- Familial infantile striatonigral necrosis

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D018296

No signs/symptoms info available.